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Cystathioninuria

Known as: High urine cystathionine levels 
An autosomal recessive disorder caused by mutations in the CTH gene, encoding cystathionine gamma-lyase. The condition is characterized by increased… Expand
National Institutes of Health

Papers overview

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Highly Cited
2003
Highly Cited
2003
Hereditary cystathioninuria (MIM 219500) is presumed to be caused by deficiency of the activity of cystathionine gamma-lyase… Expand
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Highly Cited
1983
Highly Cited
1983
Abstract Concentrations of pyridoxal-5'-phosphate in blood and urine of infants, children and adults as well as in various human… Expand
Highly Cited
1978
Highly Cited
1978
We studied a six-month-old infant with severe megaloblastic anemia, coma and hyperpigmentation of the extremities. He was found… Expand
Highly Cited
1969
Highly Cited
1969
  • K. Mccully
  • The American journal of pathology
  • 1969
  • Corpus ID: 8960278
NDiviDuAI with homocystinuria 12 have been found to lack normal activity of the enzyme cystathionine synthetase.3 In many of the… Expand
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1968
1968
Cystathionine is not normally present in urine and only a few cases of congenital cystathioninuria are known. Cystathioninuria… Expand
1968
1968
An infantile case of cystathioninuria was described. The patient had retarded development and marked cystathioninuria. Large… Expand
Highly Cited
1965
Highly Cited
1965
From a series of studies on autopsy brains, the concentration of cystathionine has been found to vary in different areas. In the… Expand
Highly Cited
1964
Highly Cited
1964
Highly Cited
1963
Highly Cited
1963
It is now becoming generally noted that many diseases of hitherto unknown aetiology are due to inborn errors of metabolism in the… Expand
1963
1963
  • L. Gjessing
  • Scandinavian journal of clinical and laboratory…
  • 1963
  • Corpus ID: 10464052
1) An unusual ninhydrin-positive compound was found in urines from 6 cases of functional neural tumors with help of high voldtage… Expand